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Variant (rsID / SNP)

rs191293931

SLC6A1

rs191293931 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC6A1. Location: chromosome 3, position 11,070,965. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SLC6A1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:11070965
Cytoband
3p25.3
HGVS
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His)
Allele change
Missense_R239H

Associated conditions / phenotypes

Myoclonic-atonic epilepsy|History of neurodevelopmental disorder

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.